| Geno
|
Mag
|
Summary
|
| (A;A)
|
1.5
|
small chance of slightly increasing risk for a form of glaucoma
|
| (A;T)
|
1.5
|
small chance of slightly increasing risk for a form of glaucoma
|
| (T;T)
|
0
|
common in complete genomics
|
rs9282671, also known as c.241T>A, p.Tyr81Asn and Y81N, is a variant in the CYP1B1 gene on chromosome 2.
The minor allele for this variant, rs9282671(A), was originally reported in 2004 as being an autosomal dominant mutation associated with adult-onset primary open angle glaucoma (POAG).[PMID 15342693
] Note that POAG is typically considered a disorder that is recessively inherited, and that the age of onset is known to be quite variable even for a given single mutation.
A functional study in 2008 concluded that this mutation (the Y81N variant) should be considered a hypomorphic allele rather than a mutation, since the enzymatic activity of corresponding protein was in between that of a classic CYP1B1 mutant and that of a normal protein.[PMID 18470941]
More recently, the variant has been categorized as benign in ClinVar. In ExAC, it is clearly a rare variant, with an average minor allele frequency of 0.006, but showing the highest frequency in Finnish European populations (0.04).
Overall, the significance of this variant is unclear. A person carrying one or more minor rs9282671 alleles may wish to bring this to the attention of relevant health-care providers, but it could well be medically unimportant.
] Note that POAG is typically considered a disorder that is recessively inherited, and that the age of onset is known to be quite variable even for a given single mutation.
